Varaico: Literature-Extracted Genetic Variants

Gene:EHD1
Variant:p.T72A
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EHD1

NM_006795.4:p.T72A

Associated Papers

Eps 15 Homology Domain (EHD)-1 Remodels Transverse Tubules in Skeletal Muscle.

Demonbreun AR et al.

Plos One, 2015

EHD1 mediates vesicle trafficking required for normal muscle growth and transverse tubule development.

Posey AD et al.

Developmental Biology, 2014

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."